Canonical Allele Identifier: CA338270287

Gene: SDHB

Linked Data

• ClinVar Variation Id: 652522
• ClinVar RCV Id: RCV000808084
• dbSNP Id: rs1570944853
• MyVariant Identifiers: chr1:g.17349164T>C (hg19) ; chr1:g.17022669T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022669T>C , CM000663.2:g.17022669T>C	GRCh38
NC_000001.10:g.17349164T>C , CM000663.1:g.17349164T>C	GRCh37
NC_000001.9:g.17221751T>C	NCBI36
NG_012340.1:g.36502A>G , LRG_316:g.36502A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.533A>G	ENSP00000481376.2:p.Gln178Arg
ENST00000491274.6:c.662A>G	ENSP00000480482.2:p.Gln221Arg
ENST00000375499.8:c.704A>G MANE Select	ENSP00000364649.3:p.Gln235Arg
ENST00000375499.7:c.704A>G	ENSP00000364649.3:p.Gln235Arg
ENST00000475049.5:n.129A>G
ENST00000485092.5:n.368A>G
ENST00000485515.5:n.638A>G
NM_003000.2:c.704A>G , LRG_316t1:c.704A>G	NP_002991.2:p.Gln235Arg
NM_003000.3:c.704A>G MANE Select	NP_002991.2:p.Gln235Arg